Development of Neuropsychological Functions in Patients with Glutaric Aciduria Type I

Abstract

Background: Glutaric aciduria type I (GA-I) is an autosomal recessive inherited metabolic disease due to a deficiency of glutaryl-CoA dehydrogenase, which if untreated results in severe neurological impairment. Combined metabolic treatment (low-lysine diet, carnitine supplementation, and emergency treatment) according to evidence-based guideline recommendations (Kölker et al 2011) has significantly reduced the manifestation of striatal injury and secondary dystonia in glutaric acidemia type I (GA-I) patients. However, development of cognitive functions in these patients has not yet been studied in detail.